Rodolfo Tonin

发表

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content

R. Guerrini, A. Salviati, Martino Calamai, 2019, Scientific Reports.

Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies

S. Mooney, R. Guerrini, J. Thusberg, 2013, TheScientificWorldJournal.

Morquio B disease: From pathophysiology towards diagnosis.

R. Guerrini, D. Mei, G. la Marca, 2021, Molecular genetics and metabolism.

Galactosialidosis: review and analysis of CTSA gene mutations

R. Guerrini, M. Donati, A. Morrone, 2013, Orphanet Journal of Rare Diseases.

Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.

S. Mooney, R. Guerrini, G. la Marca, 2015, Clinica chimica acta; international journal of clinical chemistry.

Economic analysis of endovascular repair of abdominal aortic aneurysm follow-up comparing contrast-enhanced ultrasonography and computed tomography angiography

E. Fonseca, Rodolfo Tonin, C. Ventura, 2018 .

High frequency of biotinidase deficiency in Italian population identified by newborn screening

G. la Marca, M. Donati, A. Morrone, 2020, Molecular genetics and metabolism reports.

Carbon Nanotubes/Regenerated Silk Composite as a Three-Dimensional Printable Bio-Adhesive Ink with Self-Powering Properties

P. Fabbri, C. De Maria, G. Giorgi, 2021, ACS applied materials & interfaces.

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.

R. Guerrini, A. Morrone, A. Fioravanti, 2019, Molecular genetics and metabolism.

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss of an Exonic Splicing Enhancer

R. Guerrini, C. Marini, A. Morrone, 2018, Journal of Neurology.

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations

S. Mooney, S. Bianca, Biao Li, 2015, Human mutation.

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C

M. Lulli, R. Guerrini, Martino Calamai, 2022, Biomedicines.

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

D. Cooper, M. Mort, R. Guerrini, 2018, BMC Medical Genetics.

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

Y. Chien, R. Tomanin, R. Giugliani, 2021, Human mutation.

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation

S. Mooney, R. Guerrini, G. la Marca, 2016, BBA clinical.

3D Printing Silk-Based Bioresorbable Piezoelectric Self-Adhesive Holey Structures for In Vivo Monitoring on Soft Tissues

T. Beccari, C. De Maria, Martino Calamai, 2022, ACS applied materials & interfaces.

Biocompatible and Printable Ionotronic Sensing Materials Based on Silk Fibroin and Soluble Plant-Derived Polyphenols

T. Beccari, C. Petrillo, A. Paciaroni, 2022, ACS omega.

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations

S. Mooney, S. Bianca, Biao Li, 2015, Human mutation.